rs80358243, MLC1

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
46 0.925 0.200 22 50083183 intron variant A/G;T snv 8.0E-06 0.700 1.000 2 2006 2013
Central nervous system demyelination
CUI: C0338474
Disease: Central nervous system demyelination
3 0.925 0.200 22 50083183 intron variant A/G;T snv 8.0E-06 0.700 0
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.925 0.200 22 50083183 intron variant A/G;T snv 8.0E-06 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.925 0.200 22 50083183 intron variant A/G;T snv 8.0E-06 0.700 0